Mutation screening of the RNF8, UBC13 and MMS2 genes in Northern Finnish breast cancer families.

ABSTRACT:

Background

Currently known susceptibility genes such as BRCA1 and BRCA2 explain less than 25% of familial aggregation of breast cancer, which suggests the involvement of additional susceptibility genes. RNF8, UBC13 and MMS2 are involved in the DNA damage response pathway and play important roles in BRCA1-mediated DNA damage recognition. Based on the evidence that several players in the ubiquitin-mediated BRCA1-dependent DDR seem to contribute to breast cancer predisposition, RNF8, UBC13 and MMS2 were considered plausible candidate genes for susceptibility to breast cancer.

Methods

The entire coding region and splice junctions of RNF8, UBC13 and MMS2 genes were screened for mutations in affected index cases from 123 Northern Finnish breast cancer families by using conformatio

SUBMITTER: Vuorela M 

PROVIDER: S-EPMC3156725 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature